Phenotypes associated with this allele

• Allele Symbol: Maf^tm2.1Cbm
• Allele Name: targeted mutation 2.1, Carmen Birchmeier
• Allele ID: MGI:5316775
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Maf^tm1.1Cbm/Maf^tm2.1Cbm Isl1^tm1(cre)Tmj/Isl1^+	involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6 * SJL	MGI:5316895

Genotype
MGI:5316895

cn1

• Allelic Composition: Maf^tm1.1Cbm/Maf^tm2.1Cbm; Isl1^tm1(cre)Tmj/Isl1⁺
• Genetic Background: involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6 * SJL

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

nervous system

abnormal axon morphology ( J:181639 )

• large diameter axons in the saphenous nerve become thinner

• many myelinated axons greater than 4 um are lost in the interosseous nerve

abnormal Meissner's corpuscle morphology ( J:181639 )

• reduced in number and rudimentary

• however, NF200+ axons innervating the dermal papillae are normal

abnormal pacinian corpuscle morphology ( J:181639 )

• reduced in number with axonal loss

• remaining corpuscles are small and have irregularly shaped cores

decreased pacinian corpuscle number ( J:181639 )

small pacinian corpuscles ( J:181639 )

axon degeneration ( J:181639 )

• innervating Pacinian corpuscles

abnormal nervous system electrophysiology ( J:181639 )

• following skin indentation, mice exhibit prolonged rapid adapting mechanoreceptor (RAM) firing that continues into the beginning of the static phase with increased RAM spiking over a wide range of displacement amplitudes and shortened spike intervals compared with control mice

• following skin indentation, mice exhibit decreased von Frey thresholds of short adapting mechanoreceptors compared with control mice

• mice treated with linopirdine fail to exhibit a decrease in interspike interval in the saphenous nerve unlike control mice

• however, mice exhibit normal short adapting mechanoreceptor, D-hair receptors and Adelta nociceptor firing following skin indentation

decreased nerve conduction velocity ( J:181639 )

• in large diameter but not medium diameter fibers

integument

abnormal coat/ hair morphology ( J:181639 )

• the hair in the dorsal hindpaw is shorter than the hair in the back skin and resembles hair of the tail

growth/size/body

decreased body weight ( J:181639 )

• mild in adults

• however, mice exhibit normal body weight at P15

behavior/neurological

impaired coordination ( J:181639 )

• on a rotarod test